Mutagenetix > Incidental Mutation

Incidental Mutation 'R7349:Gtpbp10'

570409

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp10

Ensembl Gene

ENSMUSG00000040464

Gene Name

GTP-binding protein 10 (putative)

Synonyms

4930545J22Rik

MMRRC Submission

045435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7349 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5587454-5609538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5605379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 108 (E108G)

Ref Sequence

ENSEMBL: ENSMUSP00000111101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088842] [ENSMUST00000115441] [ENSMUST00000119521] [ENSMUST00000147244] [ENSMUST00000198799]

AlphaFold

Q8K013

Predicted Effect

probably benign
Transcript: ENSMUST00000088842

SMART Domains

Protein: ENSMUSP00000086225
Gene: ENSMUSG00000040464

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
Pfam:FeoB_N	75	163	3e-7	PFAM
Pfam:MMR_HSR1	77	200	2.5e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115441
AA Change: E108G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111101
Gene: ENSMUSG00000040464
AA Change: E108G

Domain	Start	End	E-Value	Type
Pfam:GTP1_OBG	15	142	1.3e-18	PFAM
Pfam:FeoB_N	149	241	1.4e-8	PFAM
Pfam:MMR_HSR1	150	279	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119521

SMART Domains

Protein: ENSMUSP00000113648
Gene: ENSMUSG00000040464

Domain	Start	End	E-Value	Type
Pfam:GTP1_OBG	15	118	6.7e-14	PFAM
Pfam:MMR_HSR1	95	206	2.6e-9	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000126855

SMART Domains

Protein: ENSMUSP00000118395
Gene: ENSMUSG00000040464

Domain	Start	End	E-Value	Type
low complexity region	27	42	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128887
AA Change: E50G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121101
Gene: ENSMUSG00000040464
AA Change: E50G

Domain	Start	End	E-Value	Type
Pfam:GTP1_OBG	1	85	2.7e-11	PFAM
low complexity region	101	113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147244

SMART Domains

Protein: ENSMUSP00000119250
Gene: ENSMUSG00000040464

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198799

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,990,717 (GRCm39)	T326S	possibly damaging	Het
Acly	A	T	11: 100,412,817 (GRCm39)	H91Q	probably benign	Het
Acp3	T	A	9: 104,168,657 (GRCm39)	I403F	probably benign	Het
Angpt2	T	A	8: 18,742,090 (GRCm39)	M489L	probably damaging	Het
Arap1	T	C	7: 101,039,435 (GRCm39)	I565T	possibly damaging	Het
Atg16l2	T	C	7: 100,939,473 (GRCm39)	D563G	probably damaging	Het
Atp6v0a2	T	A	5: 124,789,392 (GRCm39)	Y386*	probably null	Het
Atp8b4	A	G	2: 126,167,265 (GRCm39)	V1078A	probably benign	Het
Bsn	T	C	9: 107,987,982 (GRCm39)	D2590G	unknown	Het
Casp12	T	C	9: 5,345,527 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,868 (GRCm39)	S787P	probably damaging	Het
Cdh13	A	G	8: 119,969,097 (GRCm39)	T485A	probably damaging	Het
Cstdc5	A	G	16: 36,184,674 (GRCm39)	V23A	probably damaging	Het
Dip2a	T	C	10: 76,121,426 (GRCm39)	H810R	probably damaging	Het
Dmbt1	A	T	7: 130,642,854 (GRCm39)	Y120F	unknown	Het
Dmgdh	C	T	13: 93,888,741 (GRCm39)	T793I	possibly damaging	Het
Dnhd1	A	G	7: 105,359,330 (GRCm39)	D3555G	probably damaging	Het
Eif4e1b	T	C	13: 54,932,006 (GRCm39)	V30A	probably benign	Het
Ercc5	T	G	1: 44,220,068 (GRCm39)	D1113E	possibly damaging	Het
Fbn1	T	C	2: 125,157,321 (GRCm39)	N2321D	possibly damaging	Het
Fbrs	T	C	7: 127,081,971 (GRCm39)	L237P	probably damaging	Het
Flg2	T	A	3: 93,127,513 (GRCm39)	S2142T	unknown	Het
Ftsj3	G	A	11: 106,140,572 (GRCm39)	T761I	probably damaging	Het
Gdi2	C	A	13: 3,606,395 (GRCm39)	T157N	probably benign	Het
Gm8122	C	A	14: 43,088,058 (GRCm39)		probably null	Het
Hectd4	T	C	5: 121,448,726 (GRCm39)	L358P	probably damaging	Het
Herc3	T	C	6: 58,835,971 (GRCm39)	C271R	probably benign	Het
Hspb1	C	T	5: 135,918,187 (GRCm39)	T178M	possibly damaging	Het
Htr3b	C	T	9: 48,847,319 (GRCm39)	V399M	probably benign	Het
Hydin	A	G	8: 111,124,803 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,326,786 (GRCm39)		probably null	Het
Iyd	G	T	10: 3,495,638 (GRCm39)	V99F	possibly damaging	Het
Lrrc36	G	A	8: 106,178,900 (GRCm39)	G365D	probably damaging	Het
Map1b	T	A	13: 99,570,148 (GRCm39)	I858F	unknown	Het
Med12l	A	T	3: 59,165,746 (GRCm39)	D1488V	probably damaging	Het
Ms4a6c	T	A	19: 11,455,555 (GRCm39)	N121K	probably damaging	Het
Nlrp1b	T	G	11: 71,072,943 (GRCm39)	Q300P	probably benign	Het
Nlrp3	G	A	11: 59,438,912 (GRCm39)	R163H	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Optc	T	G	1: 133,825,617 (GRCm39)	D356A	probably damaging	Het
Or52h7	A	G	7: 104,213,857 (GRCm39)	H143R	probably benign	Het
Or9s15	T	C	1: 92,524,904 (GRCm39)	V221A	possibly damaging	Het
Pdzd2	C	G	15: 12,399,291 (GRCm39)	V812L	probably damaging	Het
Phlpp2	T	C	8: 110,655,278 (GRCm39)	F691S	probably damaging	Het
Pigk	T	C	3: 152,453,238 (GRCm39)	F319L	probably benign	Het
Pkhd1l1	A	G	15: 44,378,350 (GRCm39)	T1035A	probably damaging	Het
Plekhg3	A	G	12: 76,611,339 (GRCm39)	T261A	probably benign	Het
Plekhm1	A	G	11: 103,278,160 (GRCm39)	F312S	probably damaging	Het
Pms2	T	A	5: 143,862,654 (GRCm39)	I587N	probably benign	Het
Ppl	T	A	16: 4,922,593 (GRCm39)	H272L	probably damaging	Het
Prkce	G	A	17: 86,800,783 (GRCm39)	A400T	probably benign	Het
Ptpn9	T	C	9: 56,951,660 (GRCm39)	S324P	probably benign	Het
Ptprk	A	T	10: 28,468,834 (GRCm39)	N1432I	possibly damaging	Het
R3hdm2	T	C	10: 127,328,515 (GRCm39)	S746P	probably benign	Het
Rnf220	G	A	4: 117,135,015 (GRCm39)	A412V	probably damaging	Het
Scel	G	A	14: 103,781,315 (GRCm39)	A154T	probably benign	Het
Sirpb1a	A	T	3: 15,475,664 (GRCm39)	N290K	probably damaging	Het
Sirpb1c	A	T	3: 15,886,310 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,248,860 (GRCm39)	R704*	probably null	Het
Spast	T	C	17: 74,680,319 (GRCm39)	V427A	probably damaging	Het
Stxbp4	A	T	11: 90,482,937 (GRCm39)		probably null	Het
Thsd7a	C	A	6: 12,352,067 (GRCm39)	G1043C		Het
Tmem205	C	T	9: 21,832,410 (GRCm39)	C167Y	probably damaging	Het
Trappc9	A	T	15: 72,608,718 (GRCm39)	L897*	probably null	Het
Trim36	A	G	18: 46,302,495 (GRCm39)	F518L	probably benign	Het
Ttc12	T	G	9: 49,359,267 (GRCm39)	T402P	possibly damaging	Het
Twnk	T	C	19: 44,998,600 (GRCm39)	V506A	possibly damaging	Het
Vmn2r18	A	T	5: 151,485,682 (GRCm39)	L604*	probably null	Het
Wdr83	T	C	8: 85,806,460 (GRCm39)	N113D	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	probably damaging	Het

Other mutations in Gtpbp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Gtpbp10	APN	5	5,596,372 (GRCm39)	missense	possibly damaging	0.71
IGL02654:Gtpbp10	APN	5	5,593,372 (GRCm39)	unclassified	probably benign
IGL03170:Gtpbp10	APN	5	5,605,355 (GRCm39)	missense	probably benign	0.03
R0421:Gtpbp10	UTSW	5	5,607,290 (GRCm39)	missense	probably benign	0.00
R4582:Gtpbp10	UTSW	5	5,592,395 (GRCm39)	missense	possibly damaging	0.95
R4832:Gtpbp10	UTSW	5	5,589,295 (GRCm39)	missense	possibly damaging	0.85
R6437:Gtpbp10	UTSW	5	5,607,406 (GRCm39)	missense	probably damaging	1.00
R6969:Gtpbp10	UTSW	5	5,605,331 (GRCm39)	missense	probably damaging	1.00
R7072:Gtpbp10	UTSW	5	5,596,365 (GRCm39)	missense	probably benign
R9500:Gtpbp10	UTSW	5	5,606,120 (GRCm39)	nonsense	probably null
R9570:Gtpbp10	UTSW	5	5,596,382 (GRCm39)	missense	probably damaging	1.00
R9609:Gtpbp10	UTSW	5	5,607,396 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTTTCCAAACCAACAGGAG -3'
(R):5'- AAGGCAGCCCTAGAGAGTTG -3'

Sequencing Primer
(F):5'- GTGATGAAATTTGTGCCTTAACTC -3'
(R):5'- AGAGTTGCTCTTAAAAGTGTGTTG -3'

Posted On

2019-09-13